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53 Cards in this Set
- Front
- Back
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Peutz-Jeghers
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AD disorder with non-colonic polyposis
Non-neoplastic polyps in small bowel, stomach--not colonic Pigmentation of lips and oral mucosa Risk of benign sex-cord stromal ovarian tumors |
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Familial polyposis
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AD disorder with total colonic polyposis
All develop tubular adenomas and cancer Inactivation of adenomatous poyposis coli (APC) suppressor gene |
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Gardner's syndrome
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AD colonic polyposis with:
-Benign osteomas -Desmoid tumors |
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Turcot's polyposis
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Turks have turbans
AR colonic polyposis tract with: Malignant brain tumors -astrocytomas -medulloblastomas |
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Hirschsprung's disease
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Sprung colon
Congenital megacolon lacking enteric nervous plexuses Failure of neural crest cell migration Risk is increased with Down syndrome Dilated colon is proximal to constricted aganglionic segment |
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Zollinger-Ellison
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Malignant pancreatic islet cell tumors
Excess gastrin and hyperacidity Related to MEN-I |
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MEN-I
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AD inheritance
3 Ps: Parathyroid, Pancreatic, Pituitary Pituitary: Prolacinomas or growth hormone Pancreatic: Zollinger-Ellison syndrome, insulinomas, VIPomas, glucagonomas (rare); Kidney stones and stomach ulcers |
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MEN-IIa
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AD inheritance
Medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism Medullary thyroid carcinomas secrete calcitonin Associated with ret gene Thyroid, pheo derived from neural crest |
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MEN-IIb
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AD inheritance
Medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas Medullary thyroid carcinomas secrete calcitonin Mucosal neuromas associated with marfanoid habitus Associated with ret gene Thyroid, pheo derived from neural crest |
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DiGeorge syndrome
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Absent thymus and parathyroid glands, pure T-cell deficiency and hypoparathyroidism
Failure of descent of third and fourth pharyngeal pouches |
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Mallory-Weiss syndrome
Mallory bodies |
Eilleen Mallory is a drunk bulimic
Tear in proximal stomach and distal esophagus Due to retching in alcoholics or bulimics Hematemesis Hyalin eosinophilic inclusions in hepatocytes Ubiquinated cytokeratin intermediate filaments |
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Boerhaave's syndrome
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Boerhaave's a crappy endoscopist
Ruptured distal esophagus usually due to endoscopy, also retching Pneumomediastinum Hamman's crunch |
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Plummer-Vinson
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Iron deficiency leading to leukoplakia, esophageal web/stricture, dysphagia for solids, achloryhydria, glossitis, koilonychia (spoon nails)
Erika Vinson the Plummer has chronic iron deficiency! |
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Plummer's disease
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Toxic multinodular goiter
TSH independent nodules Lacks exophthalmos and pretibial myxedema of Graves' disease |
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Addison's disease
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Chronic adrenal insufficiency
Autoimmune is MCC in U.S. Miliary TB in developing countries Weakness, hypotension, diffuse hyperpigmentation No response to ACTH stimulation test Elevated ACTH Fasting hypoglycemia |
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Grave's disease
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MCC of hyperthyroidism/toxicosis
HLA-Dr3 association Autoimmune disease with stimulating Anti-TSH-R IgG Exophthalmos and pretibial myxedema |
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Cushing syndrome
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MCC is prolonged corticosteroid therapy
Pituitary, adrenal, and ectopic Cushing syndromes Hyperglycemia, hyperinsulinism, weight gain Muscle weakness, thin extremities, truncal obesity, moon facies, buffalo hump, purple striae, osteoporosis Muscle weakness, diastolic hypertension |
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Conn's syndrome
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Primary hyperaldosteronism, mc due to benign adenoma
Diastolic hypertension, metabolic alkalosis (muscle weakness, tetany), hypernatremia, hypokalemia |
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Hashimoto's thyroiditis
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Cytotoxic T cell destruction of thyroid parenchyma
Blocking Anti-TSH-R IgG decreases hormone synthesis Antimicrosomal and antithyroglobulin Abs develop as a result of gland injur HLA-Dr3 and HLA-Dr5 association MCC of hypothyroidism Initial thyrotoxicosis due to gland destruction and T4 release |
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Waterhouse-Friderichsen syndrome
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Associated with N. meningitidis septicemia
Endotoxic shock and DIC Bilateral adrenal hemorrhage and acute adrenocortical insufficiency |
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Zenker's diverticulum
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Most common esophageal diverticulum
Cricopharyngeal muscle dysfunction Increased oropharyngeal pressure causes mucosal herniation |
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Whipple's disease
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Infection with Tropheryma whippeli
Rheumatologic, gastro, CNS, ocular, and constitutional symptoms |
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Gilbert's syndrome
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Jaundice with fasting, stress; asymptomatic and benign
Defect in uptake and/or conjugation of bilirubin (UDP-glucuronyl transferase) |
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Crigler-Najjar syndrome
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Decreased to absent UDP-glucuronyl transferase for bilirubin conjugation
Type I is severe with early childhood death; plasmapheresis and phototherapy Type II responds to phenobarbital: increases liver enzyme synthesis |
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Dubin-Johnson syndrome
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Genetic defect in excretion of bilirubin into intrahepatic bile ducts
Black pigment in hepatocytes; grossly black liver Benign |
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Reye's Syndrome
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Encephalopathy and fatty change/hepatosplenomegaly
Mitochondrial damage, defective beta-oxidation of fatty acids Usually <4y/o after varicella/influenza |
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HELLP Syndrome
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Preeclampsia
Hemolytic anemia with schistocytes Elevated Liver enzymes Low Platelets |
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Wilson's Disease
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AR disorder-defective copper transport system:
Decreased ceruloplasmin (binding protein) Decreased copper excretion into bile Liver hepatitis and cirrhosis Kayser-Fleischer rings in Descemet's membrane of cornea CNS disease with chorea (putamen), hemiballismus (STN), dementia (cortex) |
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α1-Antitrypsin Deficiency
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AR disorder-mutant AAT can't be secreted by liver
Accumulation in liver PAS stain shows red granules in hepatocytes Neonatal hepatitis with intrahepatic cholestasis MCC of cirrhosis in kids Increased risk of HCC Variant with no AAT synthesis have panacinar emphysema |
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"Bronze diabetes"
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Pathognomonic for hemochromatosis
AR disorder w/ unrestricted Fe reabsorption Hereditary hemochromatosis gene (HFE) Free radical damage Cirrhosis, pancreas damage with Type I DM & malabsorption, restrictive cardiomyopathy, degenerative joint disease Increased ferritin, serum Fe, % sat Decreased TIBC |
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Causes of hepatocellular carcinoma
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Strong association with preexisting cirrhosis
Most common is HBV and HCV Aflatoxins from Aspergillus mold, hereditary hemochromatosis, alcoholic cirrhosis, primary biliary cirrhosis, α1-AT deficiency |
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Sheehan's
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Post-partum hypopituitarism
Hypovolemic shock causes infarction Manifests as a sudden cessation of lactation Eventually develops hypopit |
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Rathke's pouch
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Ectodermal remnants above the sella turcica
Develops a craniopharyngioma, destroys pituitary gland Cystic tumor with hemorrhage and calcification Bitemporal hemianopsia |
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Diabetes insipidus
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Central vs. nephrogenic
Failure of ADH to do anything Hypernatremia and hypotonic urine |
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Horner's syndrome
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Pam is Horny
Ptosis, anhidrosis, and miosis Due to pathology of the superior cervical ganglion Pancoast's tumor, Brown-Sequard hemisection of cordd Late syringomyelia |
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Lambert-Eaton syndrome
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Autoantibodies against calcium channels
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Carcinoid syndrome
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Flushing, diarrhea, wheezing, salivation due to serotonin secreting tumors
Intestinal, lung endocrine tumors Intestinal tumors must metastasize to liver to produce syndrome due to first pass metabolism of 5-HT |
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Budd-chiari Syndrome
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Occlusion of IVC or hepatic veins
Centrilobular congestion and necrosis leading to congestive liver disease Associated with polycythemia vera, pregnancy, and hepatocellular carcinoma Absent jugular venous distention with hepatojugular reflux maneuver Nutmeg liver |
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Nutmeg liver
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Backup of blood into liver
Right-sided heart failure or Budd-Chiari syndrome Mottled surface appearance Centrilobular congestion and necrosis, leading to cardiac cirrhosis |
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Sturge Weber Syndrome
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AD
Facial port-wine stain Ipsilateral intracerebral AVM |
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Neurofibromatosis
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Café au lait macules, pigmented neurofibromas
Lisch nodules in the iris Also scoliosis, optic gliomas, pheo, and tumor risks Type 2 - bilateral acoustic neuromas and juvenile cataracts NF1 on 17q NF2 on 22q |
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Tuberous sclerosis
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AD
mental retardation and seizures beginning with infancy facial angiofibromas, hypopigmented skin lesions Angiomyolipomas in kidneys Astrocyte "drippings" in subependyma Rhabdomyoma in heart |
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Lesch Nyhan Syndrome
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HGPRT deficiency
He's Got Purine Recovery Troubles Aggression, gout, self mutilation, choreoathetosis, hyperuricemia, gout |
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Ankylosing Spondylitis
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HLA-B27 association
Seronegative spondyloarthropathy Chronic inflammatory disease Spinal fusion, uveitis, aortic regurgitation Bamboo spine |
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Reiter's Syndrome
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HLA-B27 association
Seronegative spondyloarthropathy Can't see, can't pee, can't climb a tree Uveitis, urethritis, arthritis Post-GI or chlamydiae infections |
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Psoriatic Arthritis
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HLA-B27 association
Seronegative spondyloarthropathy Stiffness and joint pain with psoriasis Pencil-in-cup deformity Dactylitis (sausage fingers) |
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Systemic Lupus Erythematosus
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Anti-ANA (sensitive), Anti-dsDNA (specific/poor prognosis), Anti-Smith (specific) Abs with rim pattern
False RPR/VDRL due to Anti-phospholipid Abs Anti-histone Abs indicate drug-induced Female 14-45y/o Diffuse proliferative glomerulonephritis Malar/discoid rash Raynaud's phenomenon Non-bacterial verrucous endocarditis Death from renal failure IMDAMNSHARP=Igs,Malar,Discoid,ANA,Mucositis,Neurologica,Serositis,Hematological,Arthritis,Renal,Photosensitivity |
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Sarcoidosis
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GRAIN=Gammaglobulins, RA, ACE increased, interstitial fibrosis, noncaseating granulomas
Restrictive lung disease Bilateral hilar lymphadenopathy Erythema nodosum Bell's palsy Hypercalcemia Tx with steroids |
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Polymyositis
Dermatomyositis |
Progressive symmetric proximal muscle weakness
CD8+ T cell mediated injury to myofibers Shoulders commonly Muscle biopsy for diagnosis Anti-ANA, Anti-Jo-1 Abs Malar/heliotrope/shawl & face rashes Gottron's papules Risk of malignancy |
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Mixed connective tissue disease
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Anti-U1RNP antibodies
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Paget Disease of Bone
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Abnormal bone architecture
Increased osteoclast and blast activity Mosaic bone pattern, increased ALP High output CHF Risk of osteogenicsarcoma |
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Paget Disease of Breast
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Intraepithelial adenocarcinoma
Malignant cells contain mucin, PAS positive Rarely invades dermis Red, crusted extramammary lesion |
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Von Hippel-Lindau
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AD
Cavernous hemangiomas in cerebellum and retina Risk of pheochromocytoma and bilateral RCC |
